Polyvalvular heart disease associated with short stature, facial anomalies, and mental retardation: An additional familial report [2]

American Journal of Medical Genetics

Volumn 127 A, Issue 1, 2004, Pages 101-103

  Digilio, M Cristina ^a   Capolino, Rossella ^a   Versacci, Paolo ^b   Marino, Bruno ^b  

^a BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^b SAPIENZA UNIVERSITY OF ROME   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; AORTA VALVE DISEASE; AUTOSOMAL DOMINANT DISORDER; CASE REPORT; CONGENITAL HEART DISEASE; ECHOCARDIOGRAPHY; FACE MALFORMATION; FEMALE; HUMAN; LETTER; MENTAL RETARDATION MALFORMATION SYNDROME; MITRAL VALVE PROLAPSE; MULTIPLE MALFORMATION SYNDROME; PRIORITY JOURNAL; SYNDROME DELINEATION; TRICUSPID VALVE DISEASE; VALVULAR HEART DISEASE;

ADOLESCENT; BODY HEIGHT; FACE; FACIES; FEMALE; GROWTH DISORDERS; HEART DEFECTS, CONGENITAL; HEART VALVES; HUMANS; MENTAL RETARDATION; SYNDROME;

EID: 3142743083     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Letter

References (3)

1. Collins FA, Partington MW, Mulcahy D, Turner G. 1990. A new syndrome of familial short stature, small hands, valvular heart disease, and a characteristic facies. Clin Genet 37:18-23.
2. Fryer A. 1994. Mental retardation, mitral valve prolapse, and characteristic face: Another report? Am J Med Genet 51:227.
3. James PA, Aftimos S, Skinner JR. 2003. Familial mitral valve prolapse associated with short stature, characteristic face, and sudden death. Am J Med Genet 119A:32-36.